KEGG   VARIANT: 1621v1
Entry
1621v1                      Variant                                
Name
DBH deficiency
Type
Loss of function
Gene
DBH  dopamine beta-hydroxylase [KO:K00503]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609312
Network
nt06028  Dopamine and serotonin metabolism
nt06544  Neuroactive ligand signaling
Disease
H01005  Dopamine beta-hydroxylase deficiency
H02751  Orthostatic hypotension
Reference
PMID:11857564
  Authors
Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS
  Title
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.
  Journal
Am J Med Genet 108:140-7 (2002)
DOI:10.1002/ajmg.10196
LinkDB

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